Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		P09471 G protein subunit alpha o1 Enzyme modulator 20 0.523 0.808 0.99 0.430 definitive 1.000 6 2 1997 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 39 0.477 0.808 1.00 0.420 strong 1.000 37 59 2001 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 29 0.532 0.692 1.00 0.200 None 0.971 12 13 2008 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.200 None 1.000 0 1 2002 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 28 0.537 0.654 1.00 0.150 None 1.000 30 26 2001 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.140 None 1.000 0 3 2014 2020
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		Q8NC96 NECAP endocytosis associated 1 2 0.691 0.346 0.13 0.110 None 1.000 0 1 2019 2019
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		Q9H936 solute carrier family 25 member 22 Transporter 6 0.595 0.577 6.6E-03 0.110 None 1.000 0 2 2012 2012
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 7 0.601 0.615 1.00 0.110 None 1.000 0 1 2012 2012
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		SCN1A and SCN9A antisense RNA 1 50 0.636 0.346 0.100 None 1.000 37 59 2001 2017
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 62 0.582 0.731 2.5E-04 0.100 None 1.000 4 1 2016 2017
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 69 0.663 0.577 0.100 None 1.000 4 1 2016 2017
Entrez Id: 22899
Gene Symbol: ARHGEF15
ARHGEF15 		O94989 Rho guanine nucleotide exchange factor 15 1 0.760 0.308 1.7E-06 0.100 None 0 1
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 3 0.626 0.615 1.00 0.100 None 0 1